The benefits of generating databases based on the personal genetics of thousands of people came into better focus today with an announcement from Mountain View, CA-based 23andMe, the startup that aspires to be the world’s trusted source for personal genetic information.
Using genetic data drawn from thousands of 23andMe customers, the company says it has identified a gene that appears to protect against a genetic mutation associated with Parkinson’s disease. Specifically, 23andMe says the gene serum/glucocorticoid regulated kinase 1 (SGK1) appears to be protective against a mutation known as leucine-rich repeat kinase 2 (LRRK2).
A specific mutation on the LRRK2 gene, known as G2019S, is recognized as a risk factor for developing Parkinson’s. About half the people with the mutation develop the disease. Yet 23andMe says it has genetic data from a large number of people who carry the mutation, but who surprisingly don’t have Parkinson’s. In scrutinizing this group, 23andMe says it made the first-time discovery of the potentially protective nature of SGK1.
23andMe chief business officer Ashley Dombkowski previewed the SGK1 findings at Xconomy’s “Computing in the Age of the $1,000 Genome” event in San Francisco yesterday. Dombkowski said the company has amassed the world’s largest Parkinson’s research cohort, which has more than 6,000 participants and includes one of the largest groups of individuals carrying the pathogenic mutations in the LRRK2 gene.
The Parkinson’s initiative undertaken by 23andMe “has proven the tremendous potential in leveraging DNA technology, the Internet, and patient participation to accelerate findings,” says Todd Sherer, CEO of The Michael J. Fox Foundation.
The foundation awarded a $500,000 grant to the San Diego-based Scripps Research Institute in 2010 to identify a new and potentially vital therapeutic target for Parkinson’s disease. The foundation directed the grant to Philip LoGrasso, a Scripps professor of molecular therapeutics, who has been studying LRRK2 and SGK1.
“The SGK1 discovery, while still early-stage, is a promising outcome of this unique research platform, and holds potential to inform a therapeutic approach for Parkinson’s,” Sherer says. “We are eager to see the results of the continued investigation of SGK1 by Scripps.”
23andMe says it has 125,000 genotyped customers, and nearly 90 percent have opted-in to participate in research approved by the company’s Institutional Review Board. “These individuals are extremely valuable for us to study as they provide insights into why some people do not develop disease despite having high-risk genetic factors,” says CEO Anne Wojciki in a statement released by the company. “This could lead to new drug targets or diagnostics.”
